Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Inherited cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement, resulting from paucity of elastic fibers. Elsewhere, frameshift mutations in the elastin gene have been reported in three families with autosomal dominant inheritance, and a fami...

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Bibliografiska uppgifter
Huvudupphovsmän: Markova, Dessislava, Zou, Yaqun, Ringpfeil, Franziska, Sasaki, Takako, Kostka, Günter, Timpl, Rupert, Uitto, Jouni, Chu, Mon-Li
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2003
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180361/
https://ncbi.nlm.nih.gov/pubmed/12618961
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